Autism is a behaviorally-defined neurodevelopmental disorder. Several rare mutation and microdeletion syndromes have historically been associated with autism. Most of these have other recognizable phenotypic features that are highly penetrant. Recently, genome-wide array technology has made more fine-scale mapping of SNPs and copy number variants across the genome possible. One of the most common CNVs identified using this technology in autism is a 600 kb recurrent microdeletion of 25 genes on chromosome 16p11, which accounts for about 1% of autism. Although this event has high penetrance for autism, it has also been associated with mental retardation, epilepsy, and other psychiatric and language disorders, and has been found in individuals with mild or no known manifestations of disease. Multiple other CNVs recently found to be associated with autism also have highly variable phenotypic expression, and should lead us to carefully consider our design of genetic studies and characterization of microdeletion syndromes.

Lecture #13618

Need help? Visit our help pages at http://www.msri.org/communications/vmath/hints

Supplements

Right click on the link and "Save As..." to save to your local computer.

• 13618.pdf (1.2 MB)
• 13618.ppt (1.6 MB)

Left click on thumbnail to see a larger image.

Streaming Video

This is a high quality streaming video encoded with MPEG-4 and with 640x480 resolution.

Windows and Mac users, QuickTime 6.5 or later required
Linux users, please see our Linux Help Page on how to view our streaming videos

Follow this link to --- Watch the Video Now Via Streaming Video ---

Download QuickTime File

You can download the QuickTime file here. Right click on the link and "Save As..." to save to your local computer.

• 13618-13618-Quicktime.mov (237 MB)

Create a DVD

You can download the video and audio files here. Please note that you need both files to create a DVD. Right click on the link and "Save As..." to save to your local computer. You can find instructions on how to create a DVD on our help page at http://www.msri.org/communications/vmath/author

• 13618-13618-AIFF.aiff (210 MB - Audio Only)
• 13618-13618-MPEG-2.m2v (1106 MB - Video Only)

Buy the DVD

If none of the options work for you, you can always buy the DVD of this lecture. The videos are sold at cost for $20USD (shipping included).

See more of our video archive on our main VMath - Streaming Video page.